Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.
Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Pediatr Blood Cancer. 2018 Nov;65(11):e27350. doi: 10.1002/pbc.27350. Epub 2018 Jul 15.
Advances in the application of genetic technologies reveal a growing number of heritable disorders associated with an increased risk to develop cancer during childhood. As genetic testing is increasingly employed in the clinical setting, it is essential to understand whether parents communicate with their children about test results and to elucidate the factors that influence the content and outcomes of these conversations.
Semistructured interviews were conducted with 14 parents whose children tested positive for Li-Fraumeni syndrome (LFS). Semantic content analysis was performed on transcribed interviews, focusing on questions related to parent-child conversations about the genetic testing process and disclosure of positive test results.
All parents emphasized the importance of involving children in conversations about LFS. The majority (93%) identified as being part of "cancer families" in which prior experiences with cancer created opportunities for communication. While all had spoken with their children about cancer, only seven (50%) specifically disclosed to their children that they had tested positive for LFS. The most common reason cited for nondisclosure at the time of this study was the young age of the children.
Parents of children with LFS desire open conversations about genetic testing and cancer risk. These conversations are challenging yet essential to enable child understanding of genetic risk status and enhance compliance with health-promoting and cancer surveillance measures. Development of age-appropriate educational materials and novel clinical models to facilitate parent-child conversations about genetic test results and risk status for cancer are needed.
遗传技术应用的进步揭示了越来越多与儿童期癌症风险增加相关的遗传性疾病。随着基因检测在临床环境中的应用日益增多，了解父母是否与子女就检测结果进行沟通，并阐明影响这些沟通内容和结果的因素至关重要。
对 14 名其子女被检测出患有李-佛美尼综合征（Li-Fraumeni syndrome，LFS）的父母进行了半结构化访谈。对转录后的访谈进行了语义内容分析，重点关注与父母子女之间关于基因检测过程和阳性检测结果披露的对话相关的问题。
所有父母都强调让子女参与 LFS 相关对话的重要性。大多数父母（93%）认为自己属于“癌症家庭”，这些家庭中之前的癌症经历为沟通提供了机会。虽然所有父母都与子女谈论过癌症，但只有 7 人（50%）专门向子女披露他们 LFS 检测呈阳性的情况。当时未进行披露的最常见原因是子女年龄较小。
LFS 患儿的父母希望就基因检测和癌症风险进行开放的对话。这些对话具有挑战性，但对于使子女理解遗传风险状况并增强对促进健康和癌症监测措施的依从性至关重要。需要开发适合年龄的教育材料和新的临床模式，以促进父母与子女就基因检测结果和癌症风险状况进行对话。
